Publicación: Encefalopatía epiléptica infantil en un paciente colombiano con una variante patogénica de novo en el gen STXBP1
dc.contributor.author | Paredes , Angela Camila | spa |
dc.contributor.author | González , Diana Vanesa | spa |
dc.contributor.author | Espinosa , Eugenia | spa |
dc.date.accessioned | 2020-11-13 12:22:47 | |
dc.date.accessioned | 2022-06-29T19:38:08Z | |
dc.date.available | 2020-11-13 12:22:47 | |
dc.date.available | 2022-06-29T19:38:08Z | |
dc.date.issued | 2020-11-13 | |
dc.format.mimetype | application/pdf | spa |
dc.format.mimetype | text/html | spa |
dc.format.mimetype | application/epub+zip | spa |
dc.format.mimetype | text/xml | spa |
dc.format.mimetype | audio/mpeg | spa |
dc.identifier.doi | 10.31260/RepertMedCir.01217273.966 | |
dc.identifier.eissn | 2462-991X | |
dc.identifier.issn | 0121-7372 | |
dc.identifier.uri | https://repositorio.fucsalud.edu.co/handle/001/2942 | |
dc.identifier.url | https://doi.org/10.31260/RepertMedCir.01217273.966 | |
dc.language.iso | spa | spa |
dc.publisher | Sociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la Salud | spa |
dc.relation.bitstream | https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/966/1190 | |
dc.relation.bitstream | https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/966/1548 | |
dc.relation.bitstream | https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/966/1547 | |
dc.relation.bitstream | https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/966/1401 | |
dc.relation.bitstream | https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/966/1549 | |
dc.relation.citationedition | Núm. 3 , Año 2020 : Septiembre-Diciembre | spa |
dc.relation.citationendpage | 197 | |
dc.relation.citationissue | 3 | spa |
dc.relation.citationstartpage | 192 | |
dc.relation.citationvolume | 29 | spa |
dc.relation.ispartofjournal | Revista Repertorio de Medicina y Cirugía | spa |
dc.relation.references | Shbarou R, Mikati MA. The Expanding Clinical Spectrum of Genetic Pediatric Epileptic Encephalopathies. Semin Pediatr Neurol. 2016;23(2):134-142. doi:10.1016/j.spen.2016.06.002 | spa |
dc.relation.references | Milh M, Riccardi F, Denis J. Genetics of neonatal onset epilepsies: An overview. Rev Neurol (Paris). May 2019. doi:10.1016/j. neurol.2019.01.396 | spa |
dc.relation.references | Khaikin Y, Mercimek-Mahmutoglu S. STXBP1 Encephalopathy with Epilepsy. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993. http://www.ncbi.nlm.nih.gov/books/NBK396561/. Accessed June 20, 2019. | spa |
dc.relation.references | Pearl PL. Epilepsy Syndromes in Childhood. Contin Minneap Minn. 2018;24(1, Child Neurology):186-209. doi:10.1212/ CON.0000000000000568 | spa |
dc.relation.references | Hussain S, Davanger S. The discovery of the soluble N-ethylmaleimide-sensitive factor attachment protein receptor complexandthemolecularregulationofsynapticvesicletransmitter release: the 2010 Kavli Prize in neuroscience. Neuroscience. 2011;190:12-20. doi:10.1016/j.neuroscience.2011.05.057 | spa |
dc.relation.references | Ramakrishnan NA, Drescher MJ, Drescher DG. The SNARE complex in neuronal and sensory cells. Mol Cell Neurosci. 2012;50(1):58-69. doi:10.1016/j.mcn.2012.03.009 | spa |
dc.relation.references | Saitsu H, Kato M, Mizuguchi T, et al. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet. 2008;40(6):782-788. doi:10.1038/ ng.150 | spa |
dc.relation.references | Uddin M, Woodbury-Smith M, Chan AJS, et al. Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots. G3amp58 GenesGenomesGenetics. 2018;8(4):1115-1118. doi:10.1534/ g3.118.200080 | spa |
dc.relation.references | Swanson DA, Steel JM, Valle D. Identification and Characterization of the Human Ortholog of Rat STXBP1, a Protein Implicated in Vesicle Trafficking and Neurotransmitter Release. Genomics. 1998;48(3):373-376. doi:10.1006/geno.1997.5202 | spa |
dc.relation.references | Shen C, Rathore SS, Yu H, et al. The trans-SNARE-regulating function of Munc18-1 is essential to synaptic exocytosis. Nat Commun. 2015;6(1). doi:10.1038/ncomms9852 | spa |
dc.relation.references | Toonen RFG, Wierda K, Sons MS, et al. Munc18-1 expression levels control synapse recovery by regulating readily releasable pool size. Proc Natl Acad Sci. 2006;103(48):18332-18337. doi:10.1073/ pnas.0608507103 | spa |
dc.relation.references | Suri M, Evers JMG, Laskowski RA, et al. Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1. Mol Genet Genomic Med. 2017;5(5):495-507. doi:10.1002/mgg3.304 | spa |
dc.relation.references | Verhage M. Synaptic Assembly of the Brain in the Absence of Neurotransmitter Secretion. Science. 2000;287(5454):864-869. doi:10.1126/science.287.5454.864 | spa |
dc.relation.references | Yamamoto T, Shimojima K, Yano T, et al. Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy. Brain Dev. 2016;38(3):280-284. doi:10.1016/j.braindev.2015.09.004 | spa |
dc.relation.references | Zhou P, He N, Zhang J-W, et al. Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies. Genes Brain Behav. 2018;17(8):e12456. doi:10.1111/gbb.12456 | spa |
dc.relation.references | Patzke C, Han Y, Covy J, et al. Analysis of conditional heterozygous STXBP1 mutations in human neurons. J Clin Invest. 2015;125(9):3560-3571. doi:10.1172/JCI78612 | spa |
dc.relation.references | Yamashita S, Chiyonobu T, Yoshida M, et al. Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1 -related epileptic encephalopathy. Epilepsia. 2016;57(4):e81-e86. doi:10.1111/epi.13338 | spa |
dc.relation.references | The DDD Study, Homozygosity Mapping Collaborative for Autism, UK10K Consortium, et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 2014;515(7526):209- 215. doi:10.1038/nature13772 | spa |
dc.relation.references | Murillo E. Características de las personas con el síndrome STXBP1 en España: implicaciones para el diagnóstico. An Pediatría. May 2019. doi:10.1016/j.anpedi.2019.04.008 | spa |
dc.relation.references | Stamberger H, Nikanorova M, Willemsen MH, et al. STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. Neurology. 2016;86(10):954-962. doi:10.1212/ WNL.0000000000002457 | spa |
dc.relation.references | Ortega-Moreno L, Giráldez BG, Verdú A, et al. Nueva mutación en el gen STXBP1 en un paciente con síndrome de Ohtahara no lesional. Neurología. 2016;31(8):523-527. doi:10.1016/j. nrl.2014.10.017 | spa |
dc.relation.references | Milh M, Villeneuve N, Chouchane M, et al. Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations: STXBP1 and Early Onset Epilepsy. Epilepsia. 2011;52(10):1828-1834. doi:10.1111/j.1528- 1167.2011.03181.x | spa |
dc.relation.references | Saitsu H, Kato M, Okada I, et al. STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern: Haploinsufficiency of STXBP1 in EIEE. Epilepsia. 2010;51(12):2397-2405. doi:10.1111/j.1528-1167.2010.02728.x | spa |
dc.relation.references | Keogh MJ, Daud D, Pyle A, et al. A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late- onset juvenile-onset parkinsonism. neurogenetics. 2015;16(1):65- 67. doi:10.1007/s10048-014-0431-z | spa |
dc.relation.references | Lanoue V, Chai YJ, Brouillet JZ, et al. STXBP1 encephalopathy: Connecting neurodevelopmental disorders with α-synucleinopathies? Neurology. June 2019:10.1212/ WNL.0000000000007786. doi:10.1212/WNL.0000000000007786 | spa |
dc.relation.references | Yamamoto T, Imaizumi T, Yamamoto-Shimojima K, et al. Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders. Brain Dev. June 2019. doi:10.1016/j.braindev.2019.05.007 | spa |
dc.relation.references | Campbell IM, Yatsenko SA, Hixson P, et al. Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. Genet Med. 2012;14(10):868-876. doi:10.1038/gim.2012.65 | spa |
dc.relation.references | Yuen RKC, Thiruvahindrapuram B, Merico D, et al. Whole-genome sequencing of quartet families with autism spectrum disorder. Nat Med. 2015;21(2):185-191. doi:10.1038/nm.3792 | spa |
dc.relation.references | Rezazadeh A, Uddin M, Snead OC, et al. STXBP1 encephalopathy is associated with awake bruxism. Epilepsy Behav. 2019;92:121- 124. doi:10.1016/j.yebeh.2018.12.018 | spa |
dc.relation.references | Liu J, Tong L, Song S, et al. Novel and de novo mutations in pediatric refractory epilepsy. Mol Brain. 2018;11(1). doi:10.1186/ s13041-018-0392-5 | spa |
dc.relation.references | Kovačević J, Maroteaux G, Schut D, et al. Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy. Brain. 2018;141(5):1350-1374. doi:10.1093/brain/awy046 | spa |
dc.relation.references | Uddin M, Woodbury-Smith M, Chan A, et al. Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes. Neurol Genet. 2017;3(6):e199. doi:10.1212/ NXG.0000000000000199 | spa |
dc.rights | Revista Repertorio de Medicina y Cirugía - 2020 | spa |
dc.rights.accessrights | info:eu-repo/semantics/openAccess | spa |
dc.rights.coar | http://purl.org/coar/access_right/c_abf2 | spa |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-sa/4.0/ | spa |
dc.source | https://revistas.fucsalud.edu.co/index.php/repertorio/article/view/966 | spa |
dc.subject | Encefalopatía epiléptica STXBP1 | spa |
dc.subject | epilepsia infantil | spa |
dc.subject | síndrome de Ohtahara | spa |
dc.subject | trastorno del movimiento | spa |
dc.subject | trastorno del comportamiento | spa |
dc.subject | trastorno del espectro autista | spa |
dc.subject | STXBP1 encephalopathy with epilepsy | eng |
dc.subject | epilepsy in childhood | eng |
dc.subject | Ohtahara Syndrome | eng |
dc.subject | movement disorders | eng |
dc.subject | behavior disorders | eng |
dc.subject | autism spectrum disorder | eng |
dc.title | Encefalopatía epiléptica infantil en un paciente colombiano con una variante patogénica de novo en el gen STXBP1 | spa |
dc.title.translated | Infantile epileptic encephalopathy in a colombian child with a pathogenic de novo STXBP1 gene variant | eng |
dc.type | Artículo de revista | spa |
dc.type | Journal article | eng |
dc.type.coar | http://purl.org/coar/resource_type/c_6501 | spa |
dc.type.coar | http://purl.org/coar/resource_type/c_6501 | spa |
dc.type.coarversion | http://purl.org/coar/version/c_970fb48d4fbd8a85 | spa |
dc.type.content | Text | spa |
dc.type.driver | info:eu-repo/semantics/article | spa |
dc.type.redcol | http://purl.org/redcol/resource_type/ARTREF | spa |
dc.type.version | info:eu-repo/semantics/publishedVersion | spa |
dspace.entity.type | Publication |